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Eur J Hum Genet. 2015 Nov;23(11):1438-50. doi: 10.1038/ejhg.2015.57. Epub 2015 Mar 18.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

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Department of Health, Ethics & Society, Research Schools CAPHRI and GROW, Maastricht University, Maastricht, The Netherlands.
Li Ka Shing Knowledge Institute of St Michael's Hospital & Institute of Health Policy, Management and Evaluation, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Department of Pediatrics, Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA, USA.
Center for Human Genetics Bioscientia, Ingelheim, Germany.
Department of Medicine, University Freiburg Medical Center, Freiburg, Germany.
Department of Public Health and Primary Care, Centre for Biomedical Ethics and Law, Leuven University, Belgium.
Clinical and Molecular Genetics Unit, UCL Institute of Child Health, Great Ormond Street Hospital and UCLH NHS Foundations Trusts, London, UK.
Service of Medical Genetics, University Hospital of Lausanne, Lausanne, Switzerland.
Medical Genetics Unit, Ospedali Galliera, Genova, Italy.
PHG Foundation, Cambridge, UK.
Section Community Genetics, Department of Clinical Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
Centre for Research Ethics and Bioethics, Uppsala University, Uppsala, Sweden.
Department of Clinical Ethics and Law (CELS), University of Southampton and Wessex Clinical Genetic Service, Southampton, UK.
Department of Genetics and Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, USA.
Clinical Institute of Medical Genetics, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Laboratory for Molecular Biology, Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia.
Deutsches Forschungszentrum für Gesundheit und Umwelt, Helmholtz Zentrum, München, Germany.
Division Clinical Genetics, University and Regional Laboratories Region Skåne, Lund University Hospital, Lund, Sweden.
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Department of Audiology, Bispebjerg Hospital/Rigshospitalet, Copenhagen, Denmark.
Department of Clinical Genetics, The Kennedy Center, University of Copenhagen, Copenhagen, Denmark.
Institute of Cellular and Molecular Medicine, ICMM, University of Copenhagen, Copenhagen, Denmark.


This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.

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